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https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#1
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28790476/surgical-treatment-of-sanders-type-2-calcaneal-fractures-using-a-sinus-tarsi-approach
#2
Chul Hyun Park, Dong Yeol Lee
BACKGROUND: Calcaneum is the most commonly fractured tarsal bone. The optimal treatment for displaced calcaneus fractures involving the posterior facet is surgical. The extensile lateral approach is commonly preferred because it provides sufficient exposure of the subtalar facet. However, this technique has the risk of complications such as wound necrosis and sural nerve injury. Various minimally invasive approaches, such as sinus tarsi approach, limited posterior approach, and percutaneous approach, have been introduced to reduce possible complications...
July 2017: Indian Journal of Orthopaedics
https://www.readbyqxmd.com/read/28775002/kindlin-2-association-with-rho-gdp-dissociation-inhibitor-%C3%AE-suppresses-rac1-activation-and-podocyte-injury
#3
Ying Sun, Chen Guo, Ping Ma, Yumei Lai, Fan Yang, Jun Cai, Zhehao Cheng, Kuo Zhang, Zhongzhen Liu, Yeteng Tian, Yue Sheng, Ruijun Tian, Yi Deng, Guozhi Xiao, Chuanyue Wu
Alteration of podocyte behavior is critically involved in the development and progression of many forms of human glomerular diseases. The molecular mechanisms that control podocyte behavior, however, are not well understood. Here, we investigated the role of Kindlin-2, a component of cell-matrix adhesions, in podocyte behavior in vivo Ablation of Kindlin-2 in podocytes resulted in alteration of actin cytoskeletal organization, reduction of the levels of slit diaphragm proteins, effacement of podocyte foot processes, and ultimately massive proteinuria and death due to kidney failure...
August 3, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28768288/reliability-and-validity-of-a-smartphone-paired-pulse-oximeter-for-screening-of-critical-congenital-heart-defects-in-newborns
#4
Maurice J Huizing, Eduardo Villamor-Martínez, Ingrid A Chavagne, Ward Y Vanagt, Marc A E Spaanderman, Eduardo Villamor
BACKGROUND: Barriers to widespread implementation of pulse oximetry screening of critical congenital heart defects (CCHD) in newborns include increasing trends of out-of-hospital births and cost of equipment. In recent years, smartphone-compatible pulse oximeters have appeared on the market, but the validity of such devices in the setting of CCHD screening has not been evaluated. OBJECTIVES: To compare the performance in CCHD screening of a smartphone-paired pulse oximeter (Masimo iSpO2-Rx™) and a hospital-grade pulse oximeter (Masimo Radical-7™)...
August 3, 2017: Neonatology
https://www.readbyqxmd.com/read/28767168/the-possibility-of-free-tissue-transfer-as-a-nutrient-flap-for-critical-ischemic-foot-a-case-report
#5
Kentaro Tanaka, Kimihiro Igari, Mitsuhiro Kishino, Satoshi Usami, Tsutomu Homma, Takahiro Toyofuku, Yoshinori Inoue, Mutsumi Okazaki
Microsurgical procedure of free tissue transfer in critical limb ischemia patients with large ulceration has already been established. The nutrient flap concept was that transferred tissue functioned not only to cover the skin defect but also as a supplementary blood supply to the ischemic lower leg. This report showed the justification for this concept, which was rarely discussed. A 58-year-old male patient with progressive forefoot gangrene caused by arteriosclerosis obliterans was presented. The distal bypass procedure was performed as revascularization surgery, and a latissimus dorsi (LD) myocutaneous flap was transplanted to cover ulceration...
August 2, 2017: Microsurgery
https://www.readbyqxmd.com/read/28754555/elastin-insufficiency-causes-hypertension-structural%C3%A2-defects-and-abnormal-remodeling-of%C3%A2-renal-vascular-signaling
#6
Elizabeth A Owens, Li Jie, Beverly A S Reyes, Elisabeth J Van Bockstaele, Patrick Osei-Owusu
Elastin deficiency causes vascular stiffening, a leading risk for hypertension and chronic kidney disease (CKD). The mechanisms mediating hypertension and/or CKD pathogenesis due to elastin deficiency are poorly understood. Using the elastin heterozygous (Eln+/-) mouse model, we tested whether renal dysfunction due to elastin deficiency occurs independently of and precedes the development of hypertension. We assessed blood pressure and renal hemodynamics in 30-day and 12-week-old male and female mice. At P30, blood pressure of Eln+/- mice was similar to wild-type controls; however, renal blood flow was lower, whereas renal vascular resistance was augmented at baseline in Eln+/- mice...
July 26, 2017: Kidney International
https://www.readbyqxmd.com/read/28752185/the-subchondral-bone-healing-after-fixation-of-an-osteochondral-talar-defect-is-superior-in-comparison-with-microfracture
#7
Mikel L Reilingh, Kaj T A Lambers, Jari Dahmen, Kim T M Opdam, Gino M M J Kerkhoffs
PURPOSE: Arthroscopic bone marrow stimulation (BMS) has been considered the primary surgical treatment for osteochondral defects (OCDs) of the talus. However, fixation has been considered as a good alternative. Recently, a new arthroscopic fixation technique was described: the lift, drill, fill and fix procedure (LDFF). The purpose of this study was to evaluate the clinical and radiological results between arthroscopic LDFF and arthroscopic BMS in primary fixable talar OCDs at 1-year follow-up...
July 27, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28736619/the-role-of-orthobiologics-in-foot-and-ankle-surgery-allogenic-bone-grafts-and-bone-graft-substitutes
#8
REVIEW
James Wee, Gowreeson Thevendran
Orthobiologics are biological substances that are used therapeutically for their positive effects on healing skeletal and soft-tissue injuries. The array of orthobiological products currently available to the foot and ankle surgeon is wide, and includes bone allografts, bone substitutes, growth factors, and chondral scaffolds. Nonetheless, despite the surge in interest and usage of orthobiologics, there remains a relative paucity of research addressing their specific applications in foot and ankle surgery. In this review, we attempt to provide an overview of the literature on commonly available allogenic bone grafts and bone substitutes...
June 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28731670/calcaneus-osteomyelitis-secondary-to-guthrie-test-case-report
#9
Tugce Tural Kara, Tugba Erat, Halil Ozdemir, Aysun Yahsi, Suat Fitoz, Ergin Ciftci, Erdal Incea
Calcaneus osteomyelitis is a rare infection in newborns. Invasive procedures, prematurity and low birth wight are some causative factors. The clinical signs may be mild. We report a neonate with calcaneous osteomyelitis which was secondary to a Guthrie test sample. She was admitted to hospital with swelling, redness and increased temperature on her heel. Superficial tissue ultrasound showed fluid collection with heavy content was observed on the posterior of the right foot. Puncture and drainage was performed and methicillin-susceptible Staphylococcus aureus was isolated from the drainage culture...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28716695/the-nugget-design-a-modified-segmental-gracilis-free-flap-for-small-sized-defect-reconstruction-on-the-lower-extremity
#10
M Tremp, C M Oranges, W J Wang, R Wettstein, Y X Zhang, D J Schaefer, D F Kalbermatten
BACKGROUND: Little attention has been given to the segmental free gracilis muscle flap supplied by secondary proximal pedicles. We introduce a technical refinement for small-sized three-dimensional defect reconstruction on the foot. METHODS: Between November 2013 and August 2016, three patients with a mean age of 66 years (range 47-70 years) were included. A segmental gracilis free flap supplied by the most proximal secondary pedicle was harvested according to a modified "nugget design" to treat small-sized defects on the lower extremity requiring dead space reconstruction...
July 8, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28713713/reverse-peroneal-artery-flap-for-large-heel-and-sole-defects-a-reliable-coverage
#11
Yogesh C Bhatt, Sumer Singh, Piyush Doshi, Sanjay G Vaghani
BACKGROUND: Large soft tissue defects of ankle and foot always have been challenging to reconstruct. Reverse sural flaps, free flaps have been used for this problem with variable success. Reverse peroneal artery flap is an option to use with reliability without microvascular repair. Connections of peroneal artery around talus and ankle joint are deep and reliable with anterior tibial and posterior tibial artery. Arterial inflow and venous drainage improved with including short saphenous vein and reverse sural artery in the flap...
May 2017: World Journal of Plastic Surgery
https://www.readbyqxmd.com/read/28698831/effectiveness-of-reverse-sural-artery-flap-in-the-management-of-wheel-spoke-injuries-of-the-heel
#12
Hafiz U Farooq, Rizwan Ishtiaq, Shabana Mehr, Sadia Ayub, Umer H Chaudhry, Anam Ashraf
OBJECTIVE: Soft tissue injuries at the level of lower extremities, plantar, and dorsal foot pose a surgical challenge for reconstructive surgeons. This kind of injury commonly occurs when lower limbs get stuck in between the spokes of the wheel. Reverse sural artery flap has been proven to be an effective option to cover such defects. The aim of this study is to analyze the demographic variables of affected individuals, technical aspects of reverse sural artery flap, quantify the effectiveness of reverse sural artery flap among various treatment options available, and to study the outcome of injury...
June 10, 2017: Curēus
https://www.readbyqxmd.com/read/28689820/reverse-total-shoulder-glenoid-baseplate-stability-with-superior-glenoid-bone-loss
#13
Elise J Martin, Thomas R Duquin, Mark T Ehrensberger
BACKGROUND: Superior wear of the glenoid bone is common in patients with rotator cuff arthropathy. This can become a treatment challenge for patients who require shoulder arthroplasty. In reverse shoulder arthroplasty (RSA), glenoid bone loss may affect the stability of baseplate fixation. The primary purpose of this biomechanical laboratory study was to assess the initial fixation stability of RSA glenosphere baseplates in the presence of variable amounts of superior glenoid bone loss...
July 6, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28682674/free-flap-transfer-for-coverage-of-transmetatarsal-amputation-stump-to-preserve-residual-foot-length
#14
Hyung Min Hahn, Kwang Sik Jeong, Myong Chul Park, Dong Ha Park, Il Jae Lee
Surgical management of soft-tissue defects of the forefoot and midfoot caused by trauma or diabetic complications can be challenging because locoregional tissue is insufficient to provide adequate flap. This deficiency necessitates higher-level amputations, such as Chopart or even transtibial amputation, resulting in far more debilitating functional outcomes than are seen with partial foot amputation. The purpose of this study was to examine the surgical outcomes after transmetatarsal amputation and a free-flap transfer to preserve foot length...
March 2017: International Journal of Lower Extremity Wounds
https://www.readbyqxmd.com/read/28662954/structural-allograft-supporting-a-trabecular-metal-cup-provides-durable-results-in-complex-revision-arthroplasty
#15
Hernan A Prieto, Michael E Kralovec, Daniel J Berry, Robert T Trousdale, Rafael J Sierra, Miguel E Cabanela
BACKGROUND: Revision total hip arthroplasty (THA) is challenging specially in the presence of severe acetabular bone deficiency. We report the use of a highly porous revision shell augmented by structural allograft to provide structural support and coverage to the acetabular component. METHODS: We identified 56 patients (58 hips) undergoing revision THA, where a trabecular metal revision cup was supported by structural allograft. Mean follow-up was 5.4 years (range 2-12 years)...
June 8, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28650579/reconstruction-using-a-perforator-free-flap-after-malignant-melanoma-resection-of-the-ankle-and-foot
#16
Young C Suh, Hyunsuk P Suh, Jong S Lee, Jee S Chang, Joon P Jp Hong
BACKGROUND: Surgical excision with adequate margin is the treatment of choice to provide best chance for survival. However, tumors located on distal lower extremity may require reconstruction to salvage the limb which may affect prognosis and quality of life. This retrospective study aimed to evaluate the effect of free flap on overall outcomes of patients with primary malignant melanoma located on the foot and ankle. METHODS: Patients with primary malignant melanoma on the leg and foot who required free flap coverage between August 2005 and January 2014 were evaluated...
June 26, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28648685/proteomic-profiling-of-pachyonychia-congenita-plantar-callus
#17
Robert H Rice, Blythe P Durbin-Johnson, Michelle Salemi, Mary E Schwartz, David M Rocke, Brett S Phinney
Callus samples from the ball and the arch of the foot, collected on tape circles, were compared by shotgun proteomic profiling. Pachyonychia congenita subjects were sampled who exhibited a mutation in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, and the proteins were digested and analyzed by tandem mass spectrometry. In comparison with samples from unaffected control subjects, those from subjects with KRT6A or KRT16 mutations displayed the most differences in profile from normal, while those from subjects with KRT6C or KRT17 mutations showed few differences from normal...
June 23, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28647522/functional-medium-term-results-after-autologous-matrix-induced-chondrogenesis-for-osteochondral-lesions-of-the-talus-a-5-year-prospective-cohort-study
#18
Oliver Gottschalk, Sebastian Altenberger, Sebastian Baumbach, Stefanie Kriegelstein, Florian Dreyer, Alexander Mehlhorn, Hubert Hörterer, Andreas Töpfer, Anke Röser, Markus Walther
Autologous matrix-induced chondrogenesis (AMIC) has gained popularity in the treatment of osteochondral lesions of the talus. Previous studies have presented promising short-term results for AMIC talar osteochondral lesion repair, a 1-step technique using a collagen type I/III bilayer matrix. The aim of the present study was to investigate the mid-term effects. The 5-year results of a prospective cohort study are presented. All patients underwent an open AMIC procedure for a talar osteochondral lesion. Data analysis included general demographic data, preoperative magnetic resonance imaging findings, intraoperative details, and German version of the Foot Function Index (FFI-D) scores preoperatively and at 1 and 5 years after surgery...
June 21, 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633778/results-of-hemicap-%C3%A2-implantation-as-a-salvage-procedure-for-osteochondral-lesions-of-the-talus
#19
Sarah Ettinger, Christina Stukenborg-Colsman, Hazibullah Waizy, Christoph Becher, Daiwei Yao, Leif Claassen, Yvonne Noll, Christian Plaass
Osteochondral defects (OCDs) of the talus remain a surgical challenge, especially after failed primary treatment. The aim of the present study was to examine the clinical outcomes after HemiCAP(®) implantation for OCDs of the medial talar dome after failed previous surgery. Our retrospective study included 11 patients, who had undergone surgery from June 2009 to September 2012 for an OCD of the medial talar dome and received a HemiCAP(®) on the talus after failed previous surgery for OCD. The data were acquired using patients' medical records and standardized questionnaires, including the Foot and Ankle Outcome Score (FAOS), University of California at Los Angeles (UCLA) activity score, EQ-5D, numerical rating scale (NRS), and Short-Form 36-item Health Survey (SF-36)...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28627865/the-value-of-color-doppler-ultrasound-in-the-diagnosis-of-lower-extremity-vascular-disease-in-type-2-diabetes-and-an-analysis-of-related-factors
#20
Le Jiang, Yuehua Zhao
BACKGROUND: The aim of this paper is to explore the application and clinical significance of color Doppler ultrasound (CDU) in diagnosing lower extremity vascular disease in type 2 diabetes mellitus (T2DM) patients. METHODS: The lower extremity arteries of 81 patients with T2DM and 50 control patients were examined by CDU for blood vessel diameter, intima-media thickness, plaque on the vessel wall, lumen stenosis and filling defect in blood flow. The occurrence of diabetes mellitus was investigated in additional T2DM patients of various ages...
September 2017: Minerva Endocrinologica
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